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Disease Profile
Stiff person syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Adult
ICD-10
G25.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Stiff man syndrome; Morsch Woltman syndrome; SPS;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases;
Summary
Stiff person
SPS is caused by increased muscle activity due to decreased inhibition of the
Symptoms
Over time, persistent symptoms can lead to abnormal posturing of the spine, such as being stiffened and hunched over.[1] Daily activities such as getting into or out of bed, getting up from a chair, or dressing may become increasingly difficult.[2] People with SPS also may become fearful and anxious about navigating daily life, which in turn may trigger additional spasms. Many people with SPS develop depression as the syndrome progresses and quality of life becomes severely impaired.[2][3]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
EMG abnormality | 0003457 | |
Falls | 0002527 | |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Intermittent painful muscle spasms | 0011964 | |
30%-79% of people have these symptoms | ||
Agoraphobia |
Fear of open spaces
|
0000756 |
Autoimmune |
0030057 | |
Difficulty walking |
Difficulty in walking
|
0002355 |
Emotional lability |
Emotional instability
|
0000712 |
Exaggerated startle response | 0002267 | |
Paraspinal muscle hypertrophy | 0012894 | |
Rigidity |
Muscle rigidity
|
0002063 |
5%-29% of people have these symptoms | ||
0000819 | ||
Hypothyroidism |
Underactive thyroid
|
0000821 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Percent of people who have these symptoms is not available through HPO | ||
Adult onset |
Symptoms begin in adulthood
|
0003581 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Asymmetric limb muscle stiffness | 0007156 | |
Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ] |
0002960 |
Axial muscle stiffness | 0006921 | |
Depressivity |
Depression
|
0000716 |
Fever | 0001945 | |
Frequent falls | 0002359 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
0000822 | ||
Myoclonic spasms | 0003739 | |
Opisthotonus | 0002179 | |
Proximal limb muscle stiffness | 0007066 | |
Sporadic |
No previous family history
|
0003745 |
Tachycardia |
Fast heart rate
Heart racing
Racing heart
[ more ] |
0001649 |
Vitiligo |
Blotchy loss of skin color
|
0001045 |
Cause
Most people with stiff person syndrome have
Some individuals with stiff person syndrome will have antibodies to amphiphysin, a protein involved in the transmission of signals from one neuron to another. Individuals with these antibodies have a higher risk for developing breast, lung, or colon
Diagnosis
Additionally, a doctor may recommend electromyography (EMG), which records electrical activity in skeletal muscles.[4][8] The EMG of a person with SPS typically shows continuous motor activity in the skeletal muscles.[4][8]
Other testing that may be used to confirm or rule out the diagnosis includes:
- A hemoglobin A1C test to rule out
diabetes mellitus . - A complete blood count to rule out pernicious anemia.
- A thyroid-stimulating hormone (TSH) test to rule out thyroiditis.
- A lumbar puncture to look for oligoclonal bands which indicate that the
central nervous system is inflamed (these bands can be seen in about two thirds of people who have GAD antibodies).[3]
Treatment
- Benzodiazepines these are drugs that slow down the nervous system and may relieve muscle spasms and anxiety. They are generally considered the best initial therapy for SPS. Examples include diazepam and clonazepam.
- Baclofen this is a muscle relaxant that may be used for people in whom benzodiazepines are not effective or not well-tolerated. Some people benefit from using baclofen in addition to benzodiazepines.
- Immune modulating therapies these may be considered in people with severe symptoms who do not experience relief with benzodiazepines and baclofen. Options may include intravenous immune globulin (IVIG) therapy, plasmapheresis (also called plasma exchange), and rituximab. However studies supporting the effectiveness and safety of these therapies for SPS are limited.
Management Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes an atypical manifestation of a spinal cord disease (e.g. multiple sclerosis; tumours), axial dystonia, neuromyotonia, acquired hyperekplexia (startle disease), and psychogenic movement disorders (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
European Alliance of Neuromuscular Disorders Associations
MDG Malta 4
Gzira Road
Gzira, Intl GAR 04
Malta
Telephone: 003-56 -21 346688
E-mail: [email protected]
Website: https://www.eamda.eu/ -
International Parkinson and Movement Disorder Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: +1-414-276-2145
Fax: +1-414-276-3349
E-mail: [email protected]
Website: https://www.movementdisorders.org/
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Stiff person syndrome. Click on the link to view a sample search on this topic.
References
- NINDS Stiff-Person Syndrome Information Page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Stiff-Person-Syndrome-Information-Page#disorders-r1. Accessed 7/12/2017.
- Helfgott SM. Stiff-person syndrome. UpToDate. Waltham, MA: UpToDate; December 28, 2016; https://www.uptodate.com/contents/stiff-person-syndrome.
- Rodgers-Neame NT. Stiff Person Syndrome. Medscape Reference. May 30, 2017; https://emedicine.medscape.com/article/1172135-overview.
- Murinson BB. Stiff Person Syndrome. National Organization for Rare Disorders (NORD). 2010; https://rarediseases.org/rare-diseases/stiff-person-syndrome/.
- Stiff Person Syndrome. Johns Hopkins Medicine: Neurology & Neurosurgery. https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/neuroimmunology_and_neurological_infections/conditions/stiff_person_syndrome.html.
- Meinck HM. Stiff person syndrome and related disorders. Orphanet. August 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3198.
- Stiff-Person Syndrome; SPS. Online Mendelian Inheritance in Man (OMIM). August 31, 2016; https://www.ncbi.nlm.nih.gov/omim/184850.
- Sanders S, Bredeson C, Pringle CE, et. al. Autologous stem cell transplantation for stiff person syndrome: two cases from the Ottawa blood and marrow transplant program. JAMA Neurology. October, 2014; 71(10):1296-9. https://jamanetwork.com/journals/jamaneurology/fullarticle/1897093.
- Rakocevic G, Raju R, Dalakas MC. Anti-glutamic acid decarboxylase antibodies in the serum and cerebrospinal fluid of patients with stiff-person syndrome: correlation with clinical severity. Arch Neurol. June, 2004; 61(6):902-904. https://www.ncbi.nlm.nih.gov/pubmed/15210528.
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